ChanikaPhornphutkulMD

Medical Genetics • Providence, RI

Clinical Biochemical Genetics

Associate Professor, Pediatrics, Brown University Program in Medicine

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Office
593 Eddy St
Providence, RI 02903
Phone+1 401-444-8361

Fax+1 401-444-3288

Education & Training

Brown UniversityFellowship, Pediatric Endocrinology, 1996 - 1999
Brown UniversityResidency, Pediatrics, 1995 - 1996
University of MichiganResidency, Pediatrics, 1993 - 1995
Chiang Mai University Faculty of MedicineClass of 1992

Certifications & Licensure

RI State Medical License 1999 - 2026
MA State Medical License 2022 - 2025
MD State Medical License 2000 - 2003
MI State Medical License 1993 - 1995
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatric Endocrinology

Publications & Presentations

PubMed

1 citations
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton
American Journal of Human Genetics. 2024-04-04
6 citations
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Daniel Kenney-Jung, Aditi Korlimarla, Gail A Spiridigliozzi, Walter Wiggins, Michael Malinzak
Molecular Genetics and Metabolism. 2024-02-01
Ochronotic Chondropathy: A Case Report.
Jake Littman, John Pietro, Jon Olansen, Chanika Phornphutkul, Roy K Aaron
Biomedicines. 2023-09-25

Press Mentions

A Half-Decade of Progress at the Hassenfeld Institute Is a High Five for Children’s HealthJune 10th, 2021

Grant Support

RI Cobre: Endocrine And Nutritional Control Of Long Bone GrowthNational Center For Research Resources2007–2011